Abstracts tagged "Genetic Biomarkers"

Abstract Number: 2726 • 2016 ACR/ARHP Annual Meeting
Prevalence of HLA-B27 in the Normal Population and Patients with Axial Spondyloarthritis in Saudi Arabia
Fatima alduraibi¹, Mohammed Omair^2,3, Moheeb Al Awwami⁴, Sultana Abdulaziz⁵, Waleed Husain⁶, Maha El Dessougi⁷, Mahmoud Aljurf⁸, Hind Alhumaidan⁹, Hana Al Khabbaz¹⁰, Ibrahim Alahmadi¹¹ and Salman Al Saleh¹², ¹Department of Internal Medicine, Section of Rheumatology ,Department of Internal Medicine,King Faisal Specialsed Hospital, Saudi Arabia, Riyadh, Saudi Arabia, ²Rheumatology, King Khalid Hospital, Riyadh, ON, Saudi Arabia, ³Division of Rheumatology, Department of Medicine, King Saud University, Riyadh, Saudi Arabia, ⁴Histocompatibility and Immunogenetics Laboratory, Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, ⁵Dept of Medicine/Unit of Rheumatology, King Fahad Hospital, Jeddah, Saudi Arabia, ⁶Hera Hospital , Division of Rheumatology, Department of Medicine, Makkah, Saudi Arabia, ⁷Security Forces Hospital Division of Rheumatology, Department of Medicine, Riyadh, Saudi Arabia, ⁸Department of Adult Hematology/Oncology and Stem Cell Transplantation, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, ⁹Blood Bank/Stem Cell/Cord Blood , Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, ¹⁰Riyadh Colleges of Dentistry and Pharmacy, Riyadh, Saudi Arabia, ¹¹Organ Transplant Center, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, ¹²King Faisal Specialsed Hospital, Riyadh, Saudi Arabia
Background/Purpose: The prevalence of HLA-B27 varies between different ethnicities. Its presence is associated with susceptibility to axial spondyloarthritis (axSpA). The aim of this study is…
Abstract Number: 2873 • 2016 ACR/ARHP Annual Meeting
B-Cell activating Factor Genetic Variants in Systemic Lupus Erythematosus and Lupus Related Atherosclerosis
Evangelos Theodorou¹, Adrianos Nezos², Pinelopi Kostantopoulou³, Maria Tektonidou⁴, Michael Koutsilieris⁵ and Clio P. Mavragani⁵, ¹Rheumatology, 251 Hellenic (Greek) Air Force Hospital, Athens, Greece, ²Physiology, Department of Physiology, School of Medicine, National Kapodistrian University of Athens, Athens, Greece, ³Rheumatology Department, General Hospital of Athens "G.Gennimatas", Αthens, Greece, ⁴Laikon Hospital, Athens University Medical School, Athens, Greece, ⁵Department of Physiology, School of Medicine, National Kapodistrian University of Athens, Athens, Greece
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease with an increased atherosclerotic risk compared to healthy population, partially explained by traditional cardiovascular…
Abstract Number: 3124 • 2016 ACR/ARHP Annual Meeting
Huntingtin Interacting Protein 1 (Hip1) Is a New Arthritis Severity Gene
Teresina Laragione¹, Percio Gulko¹ and Max Brenner², ¹Medicine/Rheumatology, Icahn School of Medicine at Mount Sinai, New York, NY, ²Feinstein Institute for Medical Research, Manhasset, NY
Background/Purpose: Cia25/Pia42 is an arthritis severity and joint damage quantitative trait locus on rat chromosome 12 previously identified in an intercross between MHC identical but…
Abstract Number: 2589 • 2015 ACR/ARHP Annual Meeting
Associations Between 49 Susceptibility SNPs and Disease Activity Including Radiographic Damage in Early Untreated Rheumatoid Arthritis
Christian G. Ammitzbøll¹, Rudi Steffensen², Martin Bøgsted^3,4, Kaspar Rene Nielsen², Torkell Ellingsen⁵, Merete Lund Hetland⁶, Peter Junker⁵, Jan Pødenphant⁷, Mikkel Østergaard⁸, Julia Johansen⁹, Kim Hørslev-Petersen¹⁰ and Kristian Stengaard-Pedersen¹, ¹Department of Rheumatology, Aarhus University Hospital, Aarhus, Denmark, ²Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark, ³Department of Haematology, Aalborg University Hospital, Aalborg, Denmark, ⁴Department of Mathematical Sciences, Aalborg University, Aalborg, Denmark, Aalborg, Denmark, ⁵Department of Rheumatology, Odense University Hospital, Odense, Denmark, ⁶DANBIO, Center for Rheumatology and Spine Diseases, Rigshospitalet, Glostrup, Glostrup, Denmark, ⁷Department of Rheumatology, Copenhagen University Hospital at Gentofte, Glostrup, Denmark, ⁸Rigshospitalet-Glostrup, Copenhagen Center for Arthritis Research, Center for Rheumatology and Spine Diseases, Rigshospitalet - Glostrup, Glostrup, Denmark, ⁹Departments of Medicine and Oncology, Copenhagen University Hospital at Herlev, Copenhagen, Denmark, ¹⁰Rheumatology, Research Unit at King Christian X Hospital for Rheumatic Diseases, Graasten, Graasten, Denmark
Background/Purpose: Genome-wide association studies (GWAS) and meta-GWAS studies have identified >50 single nucleotide-polymorphisms (SNPs) that are associated with susceptibility to rheumatoid arthritis (RA). It is,…
Abstract Number: 3017 • 2015 ACR/ARHP Annual Meeting
TYK2 and Systemic Sclerosis Susceptibility: a New Associated Locus in the IL-12 Pathway
Elena Lopez-Isac¹, Lara Bossini-Castillo², Sandra G Guerra³, Shervin Assassi⁴, Carmen P. Simeón⁵, Patricia E. Carreira⁶, Norberto Ortego-Centeno⁷, Paloma García de la Peña⁵, Lorenzo Beretta⁸, Alessandro Santaniello⁹, Chiara Bellocchi¹⁰, Claudio Lunardi¹¹, Gianluca Moroncini¹², Armando Gabrielli¹³, Gabriela Riemekasten¹⁴, Torsten Witte¹⁵, Nicolas Hunzelmann¹⁶, Alexander Kreuter¹⁷, Jorg HW. Distler¹⁸, Alexandre E. Voskuyl¹⁹, J.K. de Vries-Bouwstra²⁰, Ariane L. Herrick²¹, Jane Worthington²², Christopher P. Denton²³, Carmen Fonseca³, T.R.D.J. Radstake²⁴, Maureen D Mayes²⁵ and Javier Martín¹, ¹Institute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC, Granada, Spain, ²Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, PTS Granada, Granada, Spain, ³Centre for Rheumatology, Royal Free and University College Medical School, London, United Kingdom, ⁴Rheumatology, University of Texas Medical School at Houston, Houston, TX, ⁵Rheumatologist, Granada, Spain, ⁶Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain, ⁷Systemic Autoimmune Diseases Unit, Hospital Universitario San Cecilio, Granada, Spain, ⁸Rheumatology, Milan, Italy, ⁹Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena and University of Milan, Italy, Milan, Italy, ¹⁰Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, ¹¹Department of Medicine, Università degli Studi di Verona, Verona, Italy, ¹²Dipartimento di Scienze mediche e Chirurgiche, Università politecnica delle Marche, Ancona, Italy, ¹³Clinica Medica, Università Politecnica delle Marche, Ancona, Italy, ¹⁴Clinic of Rheumatology and Clinical Immunology, Berlin, Germany, ¹⁵Department of Immunology and Rheumatology, Hannover Medical School, Hannover, Germany, ¹⁶Department of Dermatology, University of Cologne, Cologne, Germany, ¹⁷Department of Dermatology, Venereology, and Allergologie, HELIOS St. Elisabeth Hospital, Oberhausen, Germany, ¹⁸Department of Internal Medicine 3 and Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany, ¹⁹Rheumatology, Amsterdam Rheumatology and immunology Center, location VU University medical center, Amsterdam, Netherlands, ²⁰Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ²¹Centre for Musculoskeletal Research, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom, ²²Arthritis Research UK Epidemiology Unit, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, ²³Rheumatology and Connective Tissue Diseases, University College London, London, United Kingdom, ²⁴Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ²⁵University of Texas - Houston Medical School, Houston, TX
Background/Purpose: Systemic sclerosis (SSc) is a complex autoimmune disease. The aetiology of the disease is largely unknown, although both environmental and a genetic factors are…
Abstract Number: 3101 • 2015 ACR/ARHP Annual Meeting
Receptor Activator of Nuclear Factor Kappa-B Ligand (RANKL) and Sclerostin Are Related to Joint Destruction in Early Rheumatoid Arthritis Unrelated to Polymorphisms of the Genes
Antonia Boman¹, Heidi Kokkonen², Ewa Berglin¹, Lisbeth Ärlestig¹ and Solbritt Rantapaa-Dahlqvist³, ¹Public Health and Clinical Medicine/Rheumatology, Umeå University, Umeå, Sweden, ²Public Health and Clinical Medicine/ Rheumatology, Umeå University, Umeå, Sweden, ³Department of Public Health and Clinical Medicine/ Rheumatology, Umeå University, Umeå, Sweden
Background/Purpose: Rheumatoid arthritis (RA) is characterized by joint inflammation and destruction of cartilage and bone. The destructive process is related to autoantibodies, genetic polymorphisms involving…
Abstract Number: 98 • 2015 ACR/ARHP Annual Meeting
The Mitochondrial DNA (mtDNA) Haplogroups Influence the Risk of Incidence Knee OA. Replication Study Including Data from Check and OAI Cohorts
Ignacio Rego-Pérez¹, Angel Soto-Hermida¹, Juan Fernandez-Tajes¹, Mercedes Fernandez Moreno¹, Maria Eugenia Vazquez Mosquera¹, Estefanía Cortés-Pereira¹, Sonia Pertega², Sara Relaño-Fernandez¹, Natividad Oreiro¹, Carlos Fernandez-Lopez¹ and Francisco J. Blanco¹, ¹Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, ²Unidad de Epidemiología Clínica y Bioestadística. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain
Background/Purpose:Previous studies showed a significant influence of the mtDNA haplogroups on prevalence, radiographic progression and cartilage integrity of knee OA patients from different worldwide cohorts.…
Abstract Number: 101 • 2015 ACR/ARHP Annual Meeting
New Technologies for Typing Self-Identifying Antigens Encoded By HLA Genes Provide Cost-Effective Alternatives to Identifying B27 Allele Status in Rheumatoid Arthritis Subjects
Kimberly Robasky¹, Jatinder Kaur², Jennifer Sims¹, Melissa Howard¹, Eric Earley¹ and Eric Lai², ¹EA|Quintiles, Durham, NC, ²Takeda Pharmaceuticals International, Inc., Deerfield, IL
Background/Purpose: Human leukocyte antigen (HLA) genes code for proteins that allow the immune system to distinguish self from foreign cells. These genes have important indications…
Abstract Number: 103 • 2015 ACR/ARHP Annual Meeting
Axial Disease in Psoriatic Arthritis: Genetic Biomarkers of Psoriatic Spondyloarthritis
Deepak R. Jadon¹, John Bowes², Anne Barton³, Raj Sengupta¹, Alison L Nightingale⁴, Mark Lindsay⁵, Eleanor Korendowych¹, Graham Robinson⁶ and Neil J. McHugh⁷, ¹Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, United Kingdom, ²Arthritis Research UK Centre for Genetics and Genomics, The University of Manchester, Centre for Musculoskeletal Research, Manchester, United Kingdom, ³Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University Of Manchester, Manchester, United Kingdom, ⁴Pharmacy and Pharmacology, University of Bath, Bath, United Kingdom, ⁵Pharmacy & Pharmacology, University of Bath, Bath, United Kingdom, ⁶Royal United Hospital, Bath, United Kingdom, ⁷Rheumatology, Royal National Hospital for Rheumatic Diseases, Upper Borough Walls, United Kingdom
Background/Purpose: A lack of well-characterised clinical cohorts has impeded research of the genetics of axial disease in psoriatic arthritis (PsA). We sought to determine genetic…
Abstract Number: 111 • 2015 ACR/ARHP Annual Meeting
The Mitochondrial DNA (mtDNA) Haplogroups Influence the Risk of Radiographic OA Progression. a Meta-Analysis
Angel Soto-Hermida¹, Ignacio Rego-Pérez¹, Juan Fernandez-Tajes¹, Mercedes Fernandez Moreno¹, Maria Eugenia Vazquez Mosquera¹, Estefanía Cortés-Pereira¹, Sara Relaño-Fernandez¹, Sonia Pertega², Natividad Oreiro¹, Carlos Fernandez-Lopez¹ and Francisco J. Blanco¹, ¹Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, ²Unidad de Epidemiología Clínica y Bioestadística. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain
Background/Purpose: In the last years the role played by the mtDNA haplogroups in the pathogenesis of OA attracted much attention. The aim of this study…
Abstract Number: 754 • 2015 ACR/ARHP Annual Meeting
Glutathione S Transferases (GST) Polymorphisms Are Independents Predictors of Efficacy and Toxicity in Lupus Nephritis Treated with Cyclophosphamide
Alexandra Audemard-Verger¹, Nicolas Martin Silva², Céline Verstuyft³, Nathalie Costedoat-Chalumeau⁴, Aurélie Hummel⁵, Véronique Le Guern⁴, Karim Sacre⁶, Olivier Meyer⁷, Eric Daugas⁸, Cecile Goujard⁹, Audrey Sultan², Thierry Lobbedez², Lionel Galicier¹⁰, Jacques Pourrat¹¹, Claire Le Hello², Michel Godin¹², Remy Morello², Marc Lambert¹³, Eric Hachulla¹³, Philippe Vanhille¹⁴, Guillaume Queffeulou¹⁵, Jacques Potier¹⁵, Jean Jacques Dion¹⁶, P Bataille¹⁷, Dominique Chauveau¹⁸, Guillaume Moulis¹⁹, Dominique Farge²⁰, Pierre Duhaut²¹, Bernadette Saint Marcoux²², Alban Deroux²³, Jennifer Manuzak²⁴, Camille Francès²⁵, Olivier Aumaître²⁶, Holy Bezanahary²⁷, Laurent Becquemont²⁸ and Boris Bienvenu²⁹, ¹Internal Medicine, CHU Caen, caen, France, ²CHU Caen, caen, France, ³Pharmacology, Hopital Bicêtre, Le Kremlin Bicêtre, France, ⁴Internal Medicine Department, Cochin Hospital, “René-Descartes Paris V” University, Paris, France, ⁵Necker, paris, France, ⁶Internal Medicine, Hospital Bichat, Paris, France, ⁷Rheumatology, Hopital Bichat, Paris, France, ⁸Internal Medicine, AP-HP Hôpital Bîchat, Paris, France, ⁹Bichat, Paris, France, ¹⁰Clinical Immunology, St Louis Hospital, Paris, France, ¹¹Nephrology, Rangeuil Hospital, Paris, France, ¹²CHU Rouen, Rouen, France, ¹³CHU Lille, Lille, France, ¹⁴Department of Nephrology and Internal Medicine, Hospital of Valenciennes, Valenciennes, France, Valenciennes, Valenciennes, France, ¹⁵Ch Cherbourg, Cherbourg, France, ¹⁶Ch Charleville Mezeiere, Charleville Mezeiere, France, ¹⁷Ch Boulogne sur Mer, Boulogne sur Mer, France, ¹⁸CH Toulouse, Toulouse, France, ¹⁹CHU Purpan, Toulouse, France, ²⁰Internal Medicine, Hopital St Louis, Paris, France, ²¹Department of Internal Medicine and RECIF, CHU Amiens, Amiens, France, ²²CH Aulnay sous Bois, Aulnay sous Bois, France, ²³Internal Medicine, CHU Grenoble, Grenoble, France, ²⁴Institut Cochin, Paris, France, ²⁵Dermatology Service, Tenon Hospital, Paris, France, ²⁶Department of Internal Medicine 2. Referal center for SLE/APS, CHU Pitié-Salpêtrière, Paris, France, ²⁷Internal Medicine, University Hospital of Limoges, Limoges, France, ²⁸KB, Paris, France, ²⁹Internal Medicine, Hospital Caen, Caen, France
Background/Purpose: Cyclophosphamide (CYC) is effective in inducing remission of lupus nephritis (LN). CYC, as a pro-drug, requires bioactivation through multiple hepatic cytochrome P450s and glutathione…
Abstract Number: 979 • 2015 ACR/ARHP Annual Meeting
HLA Class I Genes As Susceptibility Markers of Psoriatic Arthritis in Patients with Psoriasis – a Meta-Analysis
Lihi Eder¹, Fatima Abji², Cheryl Rosen³, Muhammad Haroon⁴, Vinod Chandran¹, Rubén Queiro⁵, Shelley Bull⁶, Richard J. Cook⁷, Proton Rahman⁸, Robert Winchester⁹, Oliver FitzGerald¹⁰ and Dafna D. Gladman¹, ¹Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ²University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ³Dermatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ⁴Kerry General Hospital, Tralee, Ireland, ⁵Rheumatology Service, Hospital Universitario Central de Asturias, Oviedo, Spain, ⁶School of Public Health, Mount Sinai Hospital, Toronto, ON, Canada, ⁷Statistics and Actuarial Science, University of Waterloo, Waterloo, ON, Canada, ⁸Computer Sciences, Memorial University of Newfoundland, St. John's, NF, Canada, ⁹Columbia University, New York, NY, ¹⁰Department of Rheumatology, St Vincent's University Hospital, Dublin, Ireland
Background/Purpose: Genes that differentiate patients with psoriatic arthritis (PsA) from those with psoriasis alone may serve as markers for the development of PsA in psoriasis…
Abstract Number: 1265 • 2015 ACR/ARHP Annual Meeting
Genetic and Epigenetic Mapping of Very Early RA Synovial Fibroblasts
Emmanuel Karouzakis¹, Andrew Filer², Stephen Eyre³, Karim Raza⁴, Christoph Kolling⁵, Renate E. Gay¹, Beat A. Michel¹, Jane Worthington³, Christopher Buckley⁶, Steffen Gay¹, Michel Neidhart¹ and Caroline Ospelt¹, ¹University Hospital Zurich, Center of Experimental Rheumatology, Switzerland, Zurich, Switzerland, ²University of Birmingham, Birmingham, United Kingdom, ³University of Manchester,Institute of Inflammation and Repair, United Kingdom, Manchester, United Kingdom, ⁴University of Birmingham, Rheumatology Research Group, Institute of Inflammation and Ageing, United Kingdom, Birmingham, United Kingdom, ⁵Upper Extremity Dept., Schulthess Clinic Zurich, Zurich, Switzerland, ⁶University of Birmingham, Rheumatology Research Group, Birmingham, United Kingdom
Background/Purpose: Genome wide association studies (GWAS) studies from rheumatoid arthritis patients have identified SNPs, which are associated with changes in gene expression levels. Recent studies…
Abstract Number: 2979 • 2014 ACR/ARHP Annual Meeting
Nucleic Acid Sensing Receptors TLR7, RIG-I and MDA5 Collaborate in Driving the Systemic IFN Signature and Amplify the Pathogenic Loop: Potential New Targets for Therapy in Primary Sjogrens Syndrome
Naomi I Maria¹, Cornelia G. van Helden-Meeuwsen¹, Eline C. Steenwijk¹, Arne S. IJpma², Wouter Beumer¹, Zana Brkic¹, Virgil A. Dalm¹, Paul L. van Daele¹, P. Martin van Hagen¹, Peter J. van der Spek², Hemmo A. Drexhage¹ and Marjan A. Versnel¹, ¹Erasmus Medical Center, Immunology, Rotterdam, Netherlands, ²Erasmus Medical Center, Bioinformatics, Rotterdam, Netherlands
Background/Purpose: Primary Sjögren’s syndrome (pSS) is a systemic autoimmune disease characterized by autoantibodies targeting RNA-associated antigens, anti-SSA/SSB. The IFN-signature is present in over half of…
Abstract Number: 2966 • 2014 ACR/ARHP Annual Meeting
Genome-Wide Association Analysis of Pain Reduction in Rheumatoid Arthritis Patients Treated with TNF Inhibitors
Marieke J.H. Coenen¹, Maša Umicevic-Mirkov¹, Sophine B. Krintel², Julia Johansen³, Corinne Miceli-Richard⁴, Henrik Kallberg⁵, Hans Scheffer¹, Wietske Kievit¹, Mart A. van de Laar⁶, Piet L.C.M. van Riel¹, X. Mariette⁷, Saedis Saevarsdottir⁸, Merete Lund Hetland⁹, Sita Vermeulen¹ and Cornelis A. Albers¹, ¹Radboud university medical center, Nijmegen, Netherlands, ²Copenhagen Center for Arthritis Research, Center for Rheumatology and Spine Diseases, Copenhagen University Hospital at Glostrup, Glostrup, Denmark, ³Department of Medicine, Herlev, University of Copenhagen, Frederiksberg, Denmark, ⁴Rheumatology Department, Université Paris-Sud 11, Bicêtre Hospital,, Kremlin Bicêtre, France, ⁵Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden, ⁶University Twente & Medisch Spectrum Twente, Enschede, Netherlands, ⁷Paris-Sud University, Paris, France, ⁸Rheumatology Unit, Dept. of Medicine, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden, ⁹DANBIO, Center for Rheumatology and Spine Diseases, Glostrup Univ Hospital, Glostrup, Denmark
Background/Purpose: Pain is the dominant and prevailing symptom of rheumatoid arthritis (RA). Tumor necrosis factor inihibitors (TNFi) have proven very successful in pain reduction. Interestingly,…

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